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FLASH GENE
Symbol FREM2 contributors: mct - updated : 23-02-2016
HGNC name FRAS1 related extracellular matrix protein 2
HGNC id 25396
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • an extracellular repeated chondroitin sulphate proteoglycan domain
  • a signal peptide
  • 12 NG2 domains
  • five CALX beta domains, binding calcium with high affinity and undergoing a major conformational shift upon binding
  • a transmembrane domain
  • HOMOLOGY
    interspecies ortholog to murine Frem2
    Homologene
    FAMILY
  • FRAS1 family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane
    text
  • localized to the basement membrane
  • FRAS1 and FREM2 were colocalized with FREM3 in the basement membrane of certain skin parts, underlying the thin-layer, of rapidly proliferating keratinocytes, whereas FREM1 was detected only in the basement membrane of the tail
  • basic FUNCTION
  • required for maintaining the differentiated state of renal epithelia
  • involved in the structural adhesion of the skin epithelium to its underlying mesenchyme
  • having a role in the structure and function of basement membrane
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • part of a ternary complex that includes FRAS1 and FREM1
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with FRAS1 and FREM1 (are simultaneously stabilized at the lowermost region of the basement membrane by forming a macromolecular ternary complex)
  • interaction with FRAS1 (not only essential as a component of a macromolecular complex for the extracellular stabilization of FREM2 but it is also required for its proper intracellular trafficking and export from embryonic epithelial cells)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) FRAS2
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    in isolated Congenital anomalies of the kidney and urinary tract (CAKUT)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS